eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | craniosynostosis |
| Symptom | C1839611|n syndrome |
| Sentences | 6 |
| PubMedID- 25123707 | Severe craniosynostosis with noonan syndrome phenotype associated with shoc2 mutation: clinical evidence of crosslink between fgfr and ras signaling pathways. |
| PubMedID- 24753669 | 2 the common syndromes associated with craniosynostosis are crouzon syndrome, apert syndrome, carpenter syndrome, treacher collins syndrome, and craniotelencephalic dysplasia. |
| PubMedID- 25071892 | Bilateral squamosal suture synostosis: a rare form of isolated craniosynostosis in crouzon syndrome. |
| PubMedID- 22090712 | 2antley-bixler syndrome (abs): abs is a multiple skeletal malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities, and, often, early death. |
| PubMedID- 24328900 | Crouzon syndrome presents with craniosynostosis, maxillary hypoplasia, exophtalmus, and sometimes hampered neuropsychological development. |
| PubMedID- 23303641 | Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. |
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